Linked Data
dbSNP Id:
rs34260159
MyVariant Identifiers:
chr12:g.102155395_102155396insG (hg19)
chr12:g.101761617_101761618insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761620dup , CM000674.2:g.101761620dup | GRCh38 |
| NC_000012.11:g.102155398dup , CM000674.1:g.102155398dup | GRCh37 |
| NC_000012.10:g.100679529dup | NCBI36 |
| NG_021243.1:g.74250dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2861dup MANE Select | ENSP00000299314.7:p.Ala955CysfsTer8 | |
| ENST00000299314.11:c.2861dup | ENSP00000299314.7:p.Ala955CysfsTer8 | |
| NM_024312.4:c.2861dup | NP_077288.2:p.Ala955CysfsTer8 | |
| XM_006719593.2:c.2861dup | XP_006719656.1:p.Ala955CysfsTer8 | |
| XM_011538731.1:c.2780dup | XP_011537033.1:p.Ala928CysfsTer8 | |
| XM_006719593.3:c.2861dup | XP_006719656.1:p.Ala955CysfsTer8 | |
| XM_011538731.2:c.2780dup | XP_011537033.1:p.Ala928CysfsTer8 | |
| XM_017019961.1:c.2645dup | XP_016875450.1:p.Ala883CysfsTer8 | |
| XM_017019962.2:c.1634dup | XP_016875451.1:p.Ala546CysfsTer8 | |
| NM_024312.5:c.2861dup MANE Select | NP_077288.2:p.Ala955CysfsTer8 |